Varaico: Literature-Extracted Genetic Variants

Gene:PRDM10
Variant:p.C677Y
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PRDM10

NM_020228.3:p.C677Y

Associated Papers

Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients.

Hercent A et al.

Clinical Genetics, 2025

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.

van de Beek I et al.

Human Molecular Genetics, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."